English

Abstract

Neurofibromatoses Type 1(NF 1) is an autosomal dominant disease characterized by disordered growth of ectodermal tissues, and is part of a group of disorders called Phakomatoses (neurocutaneous syndrome). NF 1 (aka Von Recklinghausen's disease) patients develop both benign and malignant tumors at an increased frequency. Malignant peripheral nerve sheath tumours (MPNST) is a very rare tumor, with an incidence of 1 per 1,00,000 population. MPNSTs occur in about 2% to 5% of neurofibromatosis patients and constitutes between 3 to 10% of all soft tissue sarcomas. Most MPNSTs are considered as high-grade sarcomas originating from tissues of mesenchymal origin and are biologically aggressive tumours with notoriety for recurrence and metastases. In this paper, we present a case of a 64 yr old male, who was diagnosed with NF 1 at the age of 25 yrs. He presented with a local recurrence of MPNST in left thigh, He was previously operated for MPNST (Stage 1) at the same site with a tumor free margin, 3 yrs back. Thereafter patient was disease free but two and half yrs later developed a swelling at the same site. Diagnostic core needle biopsy demonstrated a high grade MPNST. Metastatic work up yielded intracranial and hepatic metastases.